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Francjan J. van Spronsen

university of groningen

53H指数
253论文数
1.0W被引数
收录论文 135
发表时间
Mapping the Severity of Phenylalanine Hydroxylase Deficiency绘制苯丙氨酸羟化酶缺乏症严重程度图谱
err2026-08-20
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errS. Haitjema; E. M. van Steenis; C. M. A. Lubout; M. R. Heiner-Fokkema; J. Zschocke; F. J. van Spronsen
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Living with Phenylketonuria in adulthood成年期苯丙酮尿症患者的生活
err2026-05-26
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errSietske Haitjema; Jade Timmenga; Charlotte MA Lubout; Frederiec K Withaar; Bruce HR Wolffenbuttel; Francjan J van Spronsen
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Vitamin B12 Supplementation: Is More Always Better?维生素B12补充:更多总是更好吗?
err2026-05-18
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errManuela Yepes-Calderón; Caecilia S. E. Doorenbos; Mariken E. Stegmann; Daan J. Touw; Hermie J. M. Harmsen; M. Rebecca Heiner-Fokkema; Francjan J. van Spronsen; Eva Corpeleijn; Stephan J. L. Bakker
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The Role of Digital Tools and Their Implementation Within Patient Care Pathways for Rare Brain Disorders: The Case of Phenylketonuria数字工具及其在罕见脑部疾病患者护理路径中的实施作用:苯丙酮尿症案例
err2026-04-09
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errSara Cannizzo; Vinciane Quoidbach; Bernadette Sheehan-Gilroy; Tobias Hagedorn; Agata Bak; Suzanne L. Dickson; Eileen P. Treacy; Alvaro Hermida; Anita MacDonald; Eva Venegas; James O'Byrne; Maurizio Scarpa; Francjan Van Spronsen; Eric Lange; Tim Buckinx; Ahmad Monavari; Stephan vom Dahl; Leopoldo Trieste; Giuseppe Turchetti
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Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: interim results from the Phase 3 APHENITY Extension Study长期Sepiapterin治疗对苯丙酮尿症患者饮食苯丙氨酸耐受性的影响:APHENITY扩展研究III期研究的阶段性结果
err2026-01-12
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errFrancjan van Spronsen; Heidi Peters; Lali Margvelashvili; Dodo Agladze; Ida Vanessa D. Schwartz; Maria Giżewska; Takashi Hamazaki; Laura Guilder; Anita MacDonald; Suresh Vijay; Anita Inwood; Maria Minami; Olivia Fjellbirkeland; Allan Lund; Melissa Lah; Janet A. Thomas; Nicola Longo; Ertuğrul Kiykim; Mika Ishige; Alberto Burlina
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Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines欧洲酪氨酸血症I型管理实践概述:迈向欧洲指南
err2025-09-18
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errAllysa M. Kuypers; Anibh M. Das; Arianna Maiorana; M. Rebecca Heiner-Fokkema; Francjan J. van Spronsen; The TT1 MetabERN Professional Collaboration Group
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Correction: Kuypers et al. Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide. Int. J. Neonatal Screen. 2024, 10, 82更正:Kuypers等人。全球新生儿筛查计划对酪氨酸血症I型的评估。Int. J. Neonatal Screen. 2024, 10, 82
err2025-09-01
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errAllysa M. Kuypers; Marelle J. Bouva; J. Gerard Loeber; Anita Boelen; Eugenie Dekkers; Konstantinos Petritis; C. Austin Pickens; The ISNS Representatives; Francjan J. van Spronsen; M. Rebecca Heiner-Fokkema
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Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide全球新生儿筛查酪氨酸血症I型项目的评估
err2025-08-21
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errAllysa M. Kuypers; Marelle J. Bouva; J. Gerard Loeber; Anita Boelen; Eugenie Dekkers; Konstantinos Petritis; C. Austin Pickens; The ISNS Representatives; Francjan J. van Spronsen; M. Rebecca Heiner-Fokkema
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International Survey on Phenylketonuria Newborn Screening国际苯丙酮尿症新生儿筛查调查
err2025-08-21
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PREAI
errDomen Trampuž; Peter C. J. I. Schielen; Rolf H. Zetterström; Maurizio Scarpa; François Feillet; Viktor Kožich; Trine Tangeraas; Ana Drole Torkar; Matej Mlinarič; Daša Perko; Žiga Iztok Remec; Barbka Repič Lampret; Tadej Battelino; ISNS Study Group on PKU; Francjan J. van Spronsen; James R. Bonham; Urh Grošelj
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Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on TreatabilityDNA优先的新生儿筛查:基于可治疗性的遗传代谢病筛查资格的系统评价
err2025-08-21
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errAbigail Veldman; Birgit Sikkema-Raddatz; Terry G. J. Derks; Clara D. M. van Karnebeek; M. B. Gea Kiewiet; Margaretha F. Mulder; Marcel R. Nelen; M. Estela Rubio-Gozalbo; Richard J. Sinke; Monique G. de Sain-van der Velden; Gepke Visser; Maaike C. de Vries; Dineke Westra; Monique Williams; Ron A. Wevers; M. Rebecca Heiner-Fokkema; Francjan J. van Spronsen
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European guidelines on diagnosis and treatment of phenylketonuria: First revision欧洲苯丙酮尿症诊断与治疗指南:首次修订
err2025-06-01
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PREAI
errvan Wegberg, A. M. J.; MacDonald, A.; Ahring, K.; Belanger-Quintana, A.; Beblo, S.; Blau, N.; Bosch, A. M.; Burlina, A.; Campistol, J.; Coskun, T.; Feillet, F.; Gizewska, M.; Huijbregts, S. C.; Leuzzi, V.; Maillot, F.; Muntau, A. C.; Rocha, J. C.; Romani, C.; Trefz, F.; van Spronsen, F. J.
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Agreement between the Amsterdam Neuropsychological Tasks and the Cambridge Neuropsychological Test Automated Battery in the assessment of PKU patients and healthy controls阿姆斯特丹神经心理学任务与剑桥神经心理学测试自动化电池在苯丙酮尿症患者和健康对照组评估中的协议
err2025-06-01
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errvan Steenis, Ellis M.; Huijbregts, Stephan C. J.; Romani, Cristina; Schoemaker, Joell A.; van Vliet, Ninke; Kuypers, Allysa M.; Rubio-Gozalbo, M. Estela; Rennings, Alexander J. M.; de Vries, Maaike; Heiner-Fokkema, M. Rebecca; van Spronsen, Francjan J.
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International Survey on Phenylketonuria Newborn Screening
err2025-02-26
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errTrampuz, Domen; Schielen, Peter C. J. I.; Zetterstrom, Rolf H.; Scarpa, Maurizio; Feillet, Francois; Kozich, Viktor; Tangeraas, Trine; Torkar, Ana Drole; Mlinaric, Matej; Perko, Dasa; Remec, Ziga Iztok; Lampret, Barbka Repic; Battelino, Tadej; ISNS Study Grp PKU, Francjan J.; van Spronsen, Francjan J.; Bonham, James R.; Groselj, Urh
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Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability
err2024-12-28
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errVeldman, Abigail; Sikkema-Raddatz, Birgit; Derks, Terry G. J.; van Karnebeek, Clara D. M.; Kiewiet, M. B. Gea; Mulder, Margaretha F.; Nelen, Marcel R.; Rubio-Gozalbo, M. Estela; Sinke, Richard J.; de van der Velden, Monique G.; Visser, Gepke; de Vries, Maaike C.; Westra, Dineke; Williams, Monique; Wevers, Ron A.; Heiner-Fokkema, M. Rebecca; van Spronsen, Francjan J.
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Comment on Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone
err2024-09-24
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errDijkstra, Allysa M.; Evers-van Vliet, Kimber; Heiner-Fokkema, M. Rebecca; Bodewes, Frank A. J. A.; Bos, Dennis K.; Zsiros, Jozsef; van Aerde, Koen J.; Koop, Klaas; van Spronsen, Francjan J.; Lubout, Charlotte M. A.
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